Varaico: Literature-Extracted Genetic Variants

TRPV6

137 papers

RefSeq Summary

This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assemb...

Pfam Domains

Ank_2aa 86–187UCSCAnkyrin repeats (3 copies)

Ankaa 202–234UCSCAnkyrin repeat

Ion_transaa 366–630UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 6

HGNC Previous Symbol

ECAC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018646.6

p.M385I

c.1155G>C

Surrounding Variants

2 papers

NM_018646.6

p.M385I

c.1155G>T

2 papers

NM_018646.6

p.M385I

c.1155G>A

2 papers

NM_018646.6

p.R390C

c.1168C>T

2 papers

NM_018646.6

p.R390H

c.1169G>A

2 papers

NM_018646.6

p.I381V

c.1141A>G

2 papers

NM_018646.6

p.Y379*

c.1137C>G

2 papers

NM_018646.6

p.Y379*

c.1137C>A

2 papers

NM_018646.6

p.L392F

c.1174C>T

1 paper

NM_018646.6

p.T396I

c.1187C>T

1 paper

NM_018646.6

p.T400M

c.1199C>T

1 paper

NM_018646.6

p.S401R

c.1201A>C

1 paper

NM_018646.6

p.S401R

c.1203C>G